A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052576



Internal ID18795107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73522514..73578676hg38UCSC Ensembl
Innerchr14:73989218..74045380hg19UCSC Ensembl
Innerchr14:73058971..73115133hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3856163
hg1956163
hg1856163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1935n100
Supporting Variantsnssv3531152
Samples
Known GenesACOT1, ACOT2, HEATR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052576
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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